To Be Well
Count all those with rare disease and their families, it will be the largest population in the world, enough to make the largest country.
Seeing the rare disease landscape from a mother’s perspective
In 2006, Jane discovered that her 15-month-old son had histiocytosis, an autoimmune disorder that is only diagnosed in approximately five out of every one million individuals. Suddenly, she and her family were forced to navigate the complex and unfamiliar terrain of what she dubbed "rare disease land."
Stressed over the health of her loved one, Jane wanted to know everything about protecting her son in this new environment. Which treatment options were best? Would a clinical trial be beneficial? What was the total care concept? She was overwhelmed by a thousand questions, and the answers weren’t always straightforward. While complex clinical language was second nature to organizations that worked with rare diseases, Jane needed someone to translate and guide her family through the patient journey. Eventually, she found individuals who could.
Jane met doctors who didn’t define her son by his disease and served as advocates, seeking additional expertise when their own did not suffice. She connected with dedicated support networks that provided resources for understanding and navigating the clinical landscape. Although rare disease research was fraught with uncertainty—sometimes it seemed like 10% science and 90% art—these passionate people helped Jane’s family feel empowered rather than powerless. Today, she serves as a board member of the Histiocytosis Association, supporting others who seek guidance for their own journeys.
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